Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.R406G
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STXBP1

NM_001032221.6:p.R406G

Associated Papers

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.

Henry OJ et al.

Epilepsia, 2025

40183601 (PubMed )
Supplement: EPI-66-2966-s001.xlsx › supplementary_table9_v2.01

Early mortality in STXBP1-related disorders.

Furia F et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."